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Tests and diagnosis
By Mayo Clinic staffDiagnosing Rett syndrome involves careful observation of your child's growth and development and a complete medical and family history.
Your child may also have certain tests to help rule out conditions that cause similar symptoms. These range from simple blood and urine tests to nerve conduction studies, which measure the speed of impulses through a nerve, and imaging tests such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans. Your child is not likely to have all of these tests, and your doctor will inform you fully of what is involved in any tests your child does have.
Once the evaluation is complete, your doctor will use specific guidelines to help diagnose Rett syndrome.
A diagnosis of the disorder requires the following criteria:
- Apparently normal development until at least the age of 6 months
- Normal head circumference at birth, followed by a slowing of the rate of head growth between the ages of 3 months and 4 years
- Severely impaired language skills
- Repetitive hand movements
- Shaking of the torso
- Toe walking or an unsteady, wide-based gait
In addition to these core (essential) symptoms, children with Rett syndrome may have other problems, such as seizures, scoliosis, trouble sleeping, irritability, poor circulation and constipation. Unless the core symptoms are present, however, your child does not have Rett syndrome.
Genetic testing
A genetic test can confirm a diagnosis of Rett syndrome. The test requires drawing a small amount of blood from a vein in your child's arm. The blood draw takes just a few minutes and shouldn't be too uncomfortable, though there may be a prick when the needle is inserted.
The same test can help detect MECP2 mutations in female relatives of children with Rett syndrome as well as in unborn children.
